{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA727887137",
  "communityStandardTitle": [
    "NM_001045.6(SLC6A4):c.838-155G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.28543389C>A?assembly=hg19",
        "id": "chr17:g.28543389C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.30216371C>A?assembly=hg38",
        "id": "chr17:g.30216371C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140700",
        "rs": 140700
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-30216371-C-A?dataset=gnomad_r3",
        "id": "17-30216371-C-A",
        "variant": "17:30216371 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-30216371-C-A?dataset=gnomad_r4",
        "id": "17-30216371-C-A",
        "variant": "17:30216371 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 30216371,
          "referenceAllele": "C",
          "start": 30216370
        }
      ],
      "hgvs": [
        "NC_000017.11:g.30216371C>A",
        "CM000679.2:g.30216371C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 28543389,
          "referenceAllele": "C",
          "start": 28543388
        }
      ],
      "hgvs": [
        "NC_000017.10:g.28543389C>A",
        "CM000679.1:g.28543389C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 25567515,
          "referenceAllele": "C",
          "start": 25567514
        }
      ],
      "hgvs": [
        "NC_000017.9:g.25567515C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24566,
          "referenceAllele": "G",
          "start": 24565
        }
      ],
      "hgvs": [
        "NG_011747.2:g.24566G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001945"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "endIntronDirection": "-",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 1142,
          "startIntronDirection": "-",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000650711.1:c.838-155G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498537.1:n.838-155G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771266",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650711.1:c.838-155G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001045.6:c.838-155G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498537.1:n.838-155G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001036.1:n.838-155G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "endIntronDirection": "-",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 1413,
          "startIntronDirection": "-",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000261707.7:c.838-155G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261707.3:n.838-155G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "endIntronDirection": "-",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 1143,
          "startIntronDirection": "-",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000394821.2:c.838-155G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378298.2:n.838-155G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "endIntronDirection": "-",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 1350,
          "startIntronDirection": "-",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000401766.6:c.838-155G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385822.2:n.838-155G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "endIntronDirection": "-",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 1413,
          "startIntronDirection": "-",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "NM_001045.5:c.838-155G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036.1:n.838-155G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "endIntronDirection": "-",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 1142,
          "startIntronDirection": "-",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "NM_001045.6:c.838-155G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036.1:n.838-155G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650711.1:c.838-155G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001045.6:c.838-155G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498537.1:n.838-155G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001036.1:n.838-155G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}